Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19864 | 59815;59816;59817 | chr2:178592415;178592414;178592413 | chr2:179457142;179457141;179457140 |
| N2AB | 18223 | 54892;54893;54894 | chr2:178592415;178592414;178592413 | chr2:179457142;179457141;179457140 |
| N2A | 17296 | 52111;52112;52113 | chr2:178592415;178592414;178592413 | chr2:179457142;179457141;179457140 |
| N2B | 10799 | 32620;32621;32622 | chr2:178592415;178592414;178592413 | chr2:179457142;179457141;179457140 |
| Novex-1 | 10924 | 32995;32996;32997 | chr2:178592415;178592414;178592413 | chr2:179457142;179457141;179457140 |
| Novex-2 | 10991 | 33196;33197;33198 | chr2:178592415;178592414;178592413 | chr2:179457142;179457141;179457140 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs763969580  |
-0.387 | 1.0 | D | 0.85 | 0.678 | 0.609467651227 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.11719E-04 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs763969580 |
-0.387 | 1.0 | D | 0.85 | 0.678 | 0.609467651227 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs763969580 |
-0.387 | 1.0 | D | 0.85 | 0.678 | 0.609467651227 | gnomAD-4.0.0 | 7.43885E-06 | None | None | None | None | I | None | 0 | 1.66856E-05 | None | 0 | 2.23284E-04 | None | 0 | 0 | 8.47778E-07 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7104 | likely_pathogenic | 0.7568 | pathogenic | -0.209 | Destabilizing | 1.0 | D | 0.75 | deleterious | D | 0.609658589 | None | None | I |
| G/C | 0.8913 | likely_pathogenic | 0.9245 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.620388166 | None | None | I |
| G/D | 0.9455 | likely_pathogenic | 0.9533 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.609254981 | None | None | I |
| G/E | 0.9616 | likely_pathogenic | 0.9686 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/F | 0.9841 | likely_pathogenic | 0.9897 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/H | 0.9772 | likely_pathogenic | 0.9858 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/I | 0.9818 | likely_pathogenic | 0.9875 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/K | 0.973 | likely_pathogenic | 0.9815 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/L | 0.9758 | likely_pathogenic | 0.9829 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/M | 0.9821 | likely_pathogenic | 0.9872 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/N | 0.9562 | likely_pathogenic | 0.9627 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/P | 0.999 | likely_pathogenic | 0.9994 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/Q | 0.9528 | likely_pathogenic | 0.9657 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/R | 0.9368 | likely_pathogenic | 0.9553 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.609860393 | None | None | I |
| G/S | 0.6469 | likely_pathogenic | 0.7056 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.57678229 | None | None | I |
| G/T | 0.9142 | likely_pathogenic | 0.938 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/V | 0.9594 | likely_pathogenic | 0.971 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.619984557 | None | None | I |
| G/W | 0.9825 | likely_pathogenic | 0.9894 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/Y | 0.9774 | likely_pathogenic | 0.9852 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.